Abstract:
:We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early childhood onset of the disease, proximal weakness, lumbar hyperlordosis, and bilateral Achilles tendon contractures, were suggestive of congenital myopathy. To the best of our knowledge, the coexistence of tubular aggregates and tubulofilamentous inclusions of the IBM type in a child has never been described.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Fidziańska A,Kamińska A,Ryniewicz Bdoi
10.1055/s-2004-830531subject
Has Abstractpub_date
2005-02-01 00:00:00pages
35-9issue
1eissn
0174-304Xissn
1439-1899journal_volume
36pub_type
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